Gene

gphna

ID

ZDB-GENE-110127-3

Name

gephyrin a

Symbol

gphna Nomenclature History

Previous Names

None

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Predicted to enable molybdopterin molybdotransferase activity. Acts upstream of or within glycine receptor clustering. Predicted to be active in several cellular components, including dendrite; postsynaptic membrane; and postsynaptic specialization. Is expressed in head; myotome; rhombomere; spinal cord; and spinal cord interneuron. Human ortholog(s) of this gene implicated in inherited metabolic disorder and molybdenum cofactor deficiency type C. Orthologous to human GPHN (gephyrin).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

4 figures from Ogino et al., 2011

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gphna Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
molybdenum cofactor deficiency type C	Alliance	Molybdenum cofactor deficiency C	615501

Associated With gphna Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR008284	Molybdenum cofactor biosynthesis, conserved site
Domain	IPR001453	MoaB/Mog domain
Domain	IPR005110	MoeA, N-terminal and linker domain
Domain	IPR005111	MoeA, C-terminal, domain IV
Family	IPR038987	Molybdopterin biosynthesis protein MoeA-like
Homologous_superfamily	IPR036135	MoeA, N-terminal and linker domain superfamily
Homologous_superfamily	IPR036425	MoaB/Mog-like domain superfamily
Homologous_superfamily	IPR036688	MoeA, C-terminal, domain IV superfamily

Domain Details Per Protein

Protein	Length	MoaB/Mog domain	MoaB/Mog-like domain superfamily	MoeA, C-terminal, domain IV	MoeA, C-terminal, domain IV superfamily	MoeA, N-terminal and linker domain	MoeA, N-terminal and linker domain superfamily	Molybdenum cofactor biosynthesis, conserved site	Molybdopterin biosynthesis protein MoeA-like
UniProtKB:A0A8M9P061 InterPro	595
UniProtKB:D3KYL0 InterPro	834
UniProtKB:A0A8M9PE95 InterPro	574
UniProtKB:A0A8M6Z1J0 InterPro	808
UniProtKB:D3KYK9 InterPro	795
UniProtKB:A0A8M9PKR1 InterPro	899
UniProtKB:A0A8M9PKR6 InterPro	860
UniProtKB:A0A8M9P8X5 InterPro	886
UniProtKB:D3KYK7 InterPro	735
UniProtKB:A0A8M9PNS6 InterPro	560
UniProtKB:A0A8M9PNR5 InterPro	906
UniProtKB:A0A8M9PKS3 InterPro	535
UniProtKB:A0A8M9PE84 InterPro	920
UniProtKB:A0A8M9P8Y1 InterPro	581
UniProtKB:A0A0R4INA6 InterPro	868
UniProtKB:A0A8M9PNS0 InterPro	881
UniProtKB:A0A8M9PE88 InterPro	885
UniProtKB:D3KYK8 InterPro	774

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	gphna-201 (1) Ensembl	Ensembl	5,300 nt	Select Tool ZFIN BLAST
mRNA	gphna-202 (1) Ensembl	Ensembl	5,480 nt	Select Tool ZFIN BLAST
mRNA	gphna-203 (1) Ensembl	Ensembl	2,261 nt	Select Tool ZFIN BLAST
mRNA	gphna-204 (1) Ensembl	Ensembl	2,441 nt	Select Tool ZFIN BLAST
mRNA	gphna-205 (1) Ensembl	Ensembl	5,582 nt	Select Tool ZFIN BLAST
mRNA	gphna-206 (1) Ensembl	Ensembl	5,387 nt	Select Tool ZFIN BLAST
mRNA	gphna-207 (1) Ensembl	Ensembl	5,519 nt	Select Tool ZFIN BLAST
mRNA	gphna-208 (1) Ensembl	Ensembl	5,540 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab2-gphn	monoclonal	gphna gphnb	IgG1	Mouse	IHC WB	BD Biosciences	4

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations